نتایج جستجو برای: insensitivity syndrome

تعداد نتایج: 626376  

Journal: :International journal of advanced research 2022

Complete androgen insensitivity syndrome or testicular feminization is the most common form of male pseudohermaphrodism, caused by a failure receptor binding. Patient with genotype 46 XY, has female morphotype well developed external sexual organs. We report case two young patients aged 23 and 21 TF discovered during exploration primary amenorrhea. A bilateral orchiectomy was performed institut...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1994
A J Larner J Moss M L Rossi M Anderson

The exact nosological status of "congenital insensitivity to pain" remains in doubt. Possible pathological correlates of this clinical syndrome include sensory neuropathy, central lesions at the level of the reticular formation or dorsal horn of the spinal cord, or a central indifference to, or asymbolia for, pain. The reassessment of two members of a kindred previously reported more than 20 ye...

2016
Sunita M. C. De Sousa Karin S. Kassahn Liam C. McIntyre Chan-Eng Chong Hamish S. Scott David J. Torpy

BACKGROUND The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was ...

2013
Vincenzo Mazza Emma Bertucci Silvia Latella Carlotta Cani Pierluca Ceccarelli Lorenzo Iughetti Fulvia Baldinotti Antonio Percesepe

Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5 α -reductase 2 gene (SRD5A2). Results. ...

Journal: :Archives of sexual behavior 2005
Tom Mazur

This review article answers three questions relevant to the medical management and care of individuals born with complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), or a micropenis: (1) Do any of these individuals reassign themselves from their initial gender assignment? (2) Do more reassign than the ones who do not? (3) Is there evidence of gender d...

Journal: :The Journal of Obstetrics and Gynecology of India 2015

Journal: :The Journal of Obstetrics and Gynecology of India 2012

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